Gene discovery offers hope of screening test for bone disease

An international team of scientists, led by the University of Edinburgh, has identified three genes linked to the development of Paget”s disease, a painful bone condition.

The researchers believe the genes are involved in regulating the rate at which bone is repaired, providing an explanation of why the disease might occur.

Paget”s disease disrupts the body”s normal process of breaking down old bone and replacing it. The condition leads to enlarged and malformed bones and patients can suffer from bone pain, brittle bones susceptible to fractures, and advanced arthritis.

The scientists said that identifying the genes that predispose people to the bone disease could lead to the development of a screening test to identify those most at risk, and improve access to preventative treatment.

The researchers studied the genes of 1250 patients with Paget”s disease to find the genes that could cause the condition.

The team – which included scientists from Spain, UK, New Zealand, and Australia – found that three genes that were faulty more frequently in patients with the bone disease than in healthy people.

Together, the faulty genes accounted for the development of Paget”s disease in about 70 per cent of cases.

The results confirmed that genes play a crucial role in the development of Paget”s disease, which explains why many patients have a family history of the condition.

It is hoped that the discovery will allow early detection of the disease and allow doctors to give preventative treatment before bones have become damaged.